Journal of the European Society for Gynaecological Endoscopy


Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases


Antenatal diagnosis, congenital abnormalities, sonographic signs, trisomy 13, trisomy 18, ultrasound

Published online: Dec 31 2014


Objective: To determine and list the variety of the predominant appeal signs leading to referral and their accompanying features found during specialized ultrasound evaluation in foetuses with trisomy 13 and trisomy 18.
Materials and Methods: In a period of thirty years, 1110 cases of foetal malformations were detected during specialized echographic evaluation. 47 Of these cases were foetuses with trisomy 13 or trisomy 18. We evaluated the predominant signs leading to referral, the difference and overlap in presenting signs between both syndromes and when the data were available, we also compared the echographic signs with the foetal pathology.
Results: In foetuses with trisomy 13 the most common malformations were craniofacial defects, cerebral malformations and genitourinary tract anomalies. The most common malformations associated with trisomy 18 were limb abnormalities and intrauterine growth restriction. Most malformations were predominant in trisomy 18, except for genitourinary tract anomalies. In most cases the sonographic signs correlated with the pathology findings.
Conclusion: Trisomy 13 as well as trisomy 18 are characterized by a number of various malformations in the foetus. Most of the ultrasound features were predominant in foetuses with trisomy 18. Mostly the foetal pathology correlated with the sonographic evaluation.

I. Kroes1, S. Janssens2, P. Defoort1

1Department of Obstetrics and Gynaecology, Ghent University Hospital, De Pintelaan 185, 9000 Gent, Belgium.

2Center for Medical Genetics Ghent, Ghent University Hospital, De Pintelaan 185, 9000 Gent, Belgium.

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